1.Expert consensus on digital restoration of complete dentures.
Yue FENG ; Zhihong FENG ; Jing LI ; Jihua CHEN ; Haiyang YU ; Xinquan JIANG ; Yongsheng ZHOU ; Yumei ZHANG ; Cui HUANG ; Baiping FU ; Yan WANG ; Hui CHENG ; Jianfeng MA ; Qingsong JIANG ; Hongbing LIAO ; Chufan MA ; Weicai LIU ; Guofeng WU ; Sheng YANG ; Zhe WU ; Shizhu BAI ; Ming FANG ; Yan DONG ; Jiang WU ; Lin NIU ; Ling ZHANG ; Fu WANG ; Lina NIU
International Journal of Oral Science 2025;17(1):58-58
Digital technologies have become an integral part of complete denture restoration. With advancement in computer-aided design and computer-aided manufacturing (CAD/CAM), tools such as intraoral scanning, facial scanning, 3D printing, and numerical control machining are reshaping the workflow of complete denture restoration. Unlike conventional methods that rely heavily on clinical experience and manual techniques, digital technologies offer greater precision, predictability, and efficacy. They also streamline the process by reducing the number of patient visits and improving overall comfort. Despite these improvements, the clinical application of digital complete denture restoration still faces challenges that require further standardization. The major issues include appropriate case selection, establishing consistent digital workflows, and evaluating long-term outcomes. To address these challenges and provide clinical guidance for practitioners, this expert consensus outlines the principles, advantages, and limitations of digital complete denture technology. The aim of this review was to offer practical recommendations on indications, clinical procedures and precautions, evaluation metrics, and outcome assessment to support digital restoration of complete denture in clinical practice.
Humans
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Denture, Complete
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Computer-Aided Design
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Denture Design/methods*
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Consensus
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Printing, Three-Dimensional
2.Effects of chronic kidney disease on growth,development and cognitive function of offspring rats,and role of esaxerenone
Chang XU ; Jieqi NIU ; Shuchen ZHANG ; Hongshuang WANG ; Fang FANG ; Yan ZHONG ; Xiangting WANG ; Zheng WANG
Chinese Journal of Pathophysiology 2025;41(2):261-267
AIM:This study aims to investigate the impact of chronic kidney disease(CKD)on the growth,development,and cognitive function of offspring rats,and to evaluate the effects of esaxerenone(ESAX)intervention.METHODS:Thirty female non-pregnant Wistar rats were randomly assigned to three groups:sham operation+pregnancy(control group),UUO+pregnancy(model group),and UUO+pregnancy+esaxerenone(treatment group),with 10 rats in each group.CKD was induced in the UUO+pregnancy and UUO+pregnancy+esaxerenone groups by performing uni-lateral ureteral obstruction(UUO),while the sham operation+pregnancy group underwent a non-ligated and non-clipped ureter procedure.Rats in the treatment group received esaxerenone at a dosage of 1 mg·kg-1·d-1.Vaginal smears were per-formed weekly from the 8th week post-UUO to monitor the estrous cycle.Female and male rats in pre-estrus or estrus were paired in a 2∶1 ratio,and the day with the first appearance of sperm in vaginal smears was recorded as the first day of preg-nancy.Offspring were delivered 21 to 22 days post-gestation,and 10 offspring from each group were selected for further experimentation:sham-offspring(sham-offspr)group,UUO-offspro group,and esaxerenone treatment offspring(ESAX-offspr)group.At 21 days of age,offspring weight and tail length were measured.Behavioral tests,including the open field test,Y maze test,and Morris water maze test,assessed learning and memory abilities.Serum levels of aldosterone,5-hydroxytryptamine(5-HT),and brain-derived neurotrophic factor(BDNF)were measured using ELISA.Serum creati-nine(SCr)and blood urea nitrogen(BUN)levels were assessed using conventional biochemical methods.Renal pathology was examined using Hematoxylin-Eosin(HE)staining.RESULTS:Offspring in the UUO-offspr group had reduced body weight and tail length compared to the sham-offspr group(P<0.05).Behavioral tests indicated that exploration and memo-ry abilities were significantly impaired in the UUO-offspr group compared to the sham-offspr group(P<0.05),while the ESAX-offspr group showed improved behavioral development compared to the UUO-offspr group(P<0.05).ELISA results revealed decreased levels of serum 5-HT,BDNF,and aldosterone in the UUO-offspr group compared to the sham-offspr group(P<0.01),with increased levels in the ESAX-offspr group(P<0.05).Renal function tests showed elevated SCr and BUN levels in the UUO-offspr group compared to the sham-offspr group(P<0.01),while levels in the ESAX-offspr group were reduced(P<0.01).HE staining demonstrated mild tubular dilation and inflammatory cell infiltration in the UUO-offspr group,whereas the ESAX-offspr group had well-arranged tubules with reduced inflammation.CONCLU-SION:Chronic kidney disease adversely affects the growth,development,and cognitive function of offspring rats by 21 days of age.Esaxerenone intervention can mitigate these detrimental effects on growth,development,and cognitive abili-ties in offspring rats.
3.Mechanism of NR4A1 regulating IFN-γ in UUO-induced renal fibrosis
Hongshuang WANG ; Fang FANG ; Jieqi NIU ; Zheng WANG ; Yan ZHONG ; Min WEI ; Xiangting WANG
Chinese Journal of Pathophysiology 2025;41(11):2221-2228
AIM:To investigate the possible mechanism how orphan nuclear receptor 4A1(NR4A1)affects renal fibrosis in unilateral ureteral obstruction(UUO)mice.METHODS:(1)Specific pathogen-free(SPF)male C57BL/6J mice(5 to 6 weeks old)were randomly divided into sh-Con+sham group(n=6),sham+sh-NR4A1 group(n=6),sh-NR4A1+UUO group(n=6),and sh-NR4A1+UUO group(n=6).Renal NR4A1 knockdown mice were prepared by intrarenal injection of NR4A1 viral vector.(2)SPF male C57BL/6J mice(5 to 6 weeks old)were randomly assigned to in sham group,UUO group,and UUO+cytosporone-B(Csn-B)group.An animal model of renal fibrosis was prepared by UUO,and Csn-B was intervened for 14 days.HE,Masson,and Sirius red staining were used to observe renal pathological damage.Immunohistochemistry and Western blot were performed to detect the expression of NR4A1,interferon-γ(IFN-γ),α-smooth muscle actin(α-SMA)and vimentin.The purpose of this study is to observe the regulatory effect of NR4A1 on UUO-induced renal fibrosis.RESULTS:(1)The expression of NR4A1 was decreased in kidney tissues of UUO mice(P<0.05).(2)HE staining results showed that there are tubular dilation,atrophy,and massive inflammatory cell infiltra-tion in sh-Con+UUO group,and NR4A1 knockdown can aggravate UUO-induced kidney damage(P<0.05).The results of Masson and Sirius red staining showed a banded distribution of collagen deposition in the sh-Con+UUO group,and colla-gen deposition increased significantly after NR4A1 knockdown(P<0.05).Treatment with Csn-B could improve renal path-ological damage and reduce collagen deposition.(3)UUO could upregulate the expression of α-SMA and vimentin,and NR4A1 knockdown could significantly increase UUO-induced their expression(P<0.05).In addition,Csn-B could im-prove UUO-induced renal fibrosis(P<0.05).(4)The expression of IFN-γ was increased in UUO mice,and NR4A1 knockdown could upregulate UUO-induced IFN-γ expression(P<0.05).Moreover,Csn-B could down-regulate UUO-in-duced IFN-γ expression(P<0.05).CONCLUSION:NR4A1 can affect renal fibrosis by regulating IFN-γ in UUO mice.
4.Mechanism of Lizhong decoction in treating cold-damp diarrhea through network pharmacology,molecular docking and animal experiments
Hao ZHANG ; Wen-wen MI ; Rong-xia GUO ; Chun NIU ; Bao-xia CHEN ; Peng JI ; Yan-ming WEI ; Fang YANG ; Zhen-he LI ; Yong-li HUA
Chinese Pharmacological Bulletin 2025;41(8):1552-1561
Aim To explore the key components and mechanisms of Lizhong decoction in treating rats with cold-damp diarrhea based on network pharmacology,molecular docking technology and animal experiments.Methods By literature review and database collec-tion,the components of Lizhong decoction,therapeutic targets,and the mapping with diarrhea disease targets were conducted to construct an intersection target pro-tein-protein interaction network for screening core tar-gets,and GO and KEGG pathway enrichment analysis was performed to build an"active component-target-pathway"network,followed by molecular docking vali-dation.Forty-eight rats were randomly divided into the normal control group(K),model group(DG),Lizhong decoction group(LZDG),and Pulsatilla decoction group(BTDG).Subsequently,a rat cold-damp diar-rhea model was established using Senna combined with low-temperature high-humidity environment,and the rats were intervened with Lizhong decoction and Pul-satilla decoction.HE staining was used to detect path-ological changes in intestinal tissue,ELISA was em-ployed to measure the levels of peripheral blood IL-6,IL-10,IL-1 β,and TNF-α,and western blot was used to determine the expression of colon tight junction pro-teins.Results Network pharmacology initially identi-fied 125 compounds in Lizhong decoction,5 186 drug target components,438 disease targets,and 60"drug-disease"shared targets.GO and KEGG enrichment a-nalysis showed that signaling pathways such as IL-17 and TNF were highly enriched.Molecular docking in-dicated that the core components of the drug had good binding activity with corresponding key targets.Liz-hong decoction could effectively improve the clinical symptoms of rats with cold-damp diarrhea,and com-pared with the DG group,the diarrhea rate,diarrhea in-dex,and other related indicators also gradually de-creased to normal levels.Compared with the DG group,the LZDG group showed reduced inflammation levels and a recovery in energy metabolism levels.Conclusion It can regulate targets such as MMP9 and IL-17 signaling pathways through multi-components like Calycosin and formononetin to exert its therapeutic effect on cold-damp diarrhea.
5.Mechanism of NR4A1 regulating IFN-γ in UUO-induced renal fibrosis
Hongshuang WANG ; Fang FANG ; Jieqi NIU ; Zheng WANG ; Yan ZHONG ; Min WEI ; Xiangting WANG
Chinese Journal of Pathophysiology 2025;41(11):2221-2228
AIM:To investigate the possible mechanism how orphan nuclear receptor 4A1(NR4A1)affects renal fibrosis in unilateral ureteral obstruction(UUO)mice.METHODS:(1)Specific pathogen-free(SPF)male C57BL/6J mice(5 to 6 weeks old)were randomly divided into sh-Con+sham group(n=6),sham+sh-NR4A1 group(n=6),sh-NR4A1+UUO group(n=6),and sh-NR4A1+UUO group(n=6).Renal NR4A1 knockdown mice were prepared by intrarenal injection of NR4A1 viral vector.(2)SPF male C57BL/6J mice(5 to 6 weeks old)were randomly assigned to in sham group,UUO group,and UUO+cytosporone-B(Csn-B)group.An animal model of renal fibrosis was prepared by UUO,and Csn-B was intervened for 14 days.HE,Masson,and Sirius red staining were used to observe renal pathological damage.Immunohistochemistry and Western blot were performed to detect the expression of NR4A1,interferon-γ(IFN-γ),α-smooth muscle actin(α-SMA)and vimentin.The purpose of this study is to observe the regulatory effect of NR4A1 on UUO-induced renal fibrosis.RESULTS:(1)The expression of NR4A1 was decreased in kidney tissues of UUO mice(P<0.05).(2)HE staining results showed that there are tubular dilation,atrophy,and massive inflammatory cell infiltra-tion in sh-Con+UUO group,and NR4A1 knockdown can aggravate UUO-induced kidney damage(P<0.05).The results of Masson and Sirius red staining showed a banded distribution of collagen deposition in the sh-Con+UUO group,and colla-gen deposition increased significantly after NR4A1 knockdown(P<0.05).Treatment with Csn-B could improve renal path-ological damage and reduce collagen deposition.(3)UUO could upregulate the expression of α-SMA and vimentin,and NR4A1 knockdown could significantly increase UUO-induced their expression(P<0.05).In addition,Csn-B could im-prove UUO-induced renal fibrosis(P<0.05).(4)The expression of IFN-γ was increased in UUO mice,and NR4A1 knockdown could upregulate UUO-induced IFN-γ expression(P<0.05).Moreover,Csn-B could down-regulate UUO-in-duced IFN-γ expression(P<0.05).CONCLUSION:NR4A1 can affect renal fibrosis by regulating IFN-γ in UUO mice.
6.Mechanism of Lizhong decoction in treating cold-damp diarrhea through network pharmacology,molecular docking and animal experiments
Hao ZHANG ; Wen-wen MI ; Rong-xia GUO ; Chun NIU ; Bao-xia CHEN ; Peng JI ; Yan-ming WEI ; Fang YANG ; Zhen-he LI ; Yong-li HUA
Chinese Pharmacological Bulletin 2025;41(8):1552-1561
Aim To explore the key components and mechanisms of Lizhong decoction in treating rats with cold-damp diarrhea based on network pharmacology,molecular docking technology and animal experiments.Methods By literature review and database collec-tion,the components of Lizhong decoction,therapeutic targets,and the mapping with diarrhea disease targets were conducted to construct an intersection target pro-tein-protein interaction network for screening core tar-gets,and GO and KEGG pathway enrichment analysis was performed to build an"active component-target-pathway"network,followed by molecular docking vali-dation.Forty-eight rats were randomly divided into the normal control group(K),model group(DG),Lizhong decoction group(LZDG),and Pulsatilla decoction group(BTDG).Subsequently,a rat cold-damp diar-rhea model was established using Senna combined with low-temperature high-humidity environment,and the rats were intervened with Lizhong decoction and Pul-satilla decoction.HE staining was used to detect path-ological changes in intestinal tissue,ELISA was em-ployed to measure the levels of peripheral blood IL-6,IL-10,IL-1 β,and TNF-α,and western blot was used to determine the expression of colon tight junction pro-teins.Results Network pharmacology initially identi-fied 125 compounds in Lizhong decoction,5 186 drug target components,438 disease targets,and 60"drug-disease"shared targets.GO and KEGG enrichment a-nalysis showed that signaling pathways such as IL-17 and TNF were highly enriched.Molecular docking in-dicated that the core components of the drug had good binding activity with corresponding key targets.Liz-hong decoction could effectively improve the clinical symptoms of rats with cold-damp diarrhea,and com-pared with the DG group,the diarrhea rate,diarrhea in-dex,and other related indicators also gradually de-creased to normal levels.Compared with the DG group,the LZDG group showed reduced inflammation levels and a recovery in energy metabolism levels.Conclusion It can regulate targets such as MMP9 and IL-17 signaling pathways through multi-components like Calycosin and formononetin to exert its therapeutic effect on cold-damp diarrhea.
7.Effects of chronic kidney disease on growth,development and cognitive function of offspring rats,and role of esaxerenone
Chang XU ; Jieqi NIU ; Shuchen ZHANG ; Hongshuang WANG ; Fang FANG ; Yan ZHONG ; Xiangting WANG ; Zheng WANG
Chinese Journal of Pathophysiology 2025;41(2):261-267
AIM:This study aims to investigate the impact of chronic kidney disease(CKD)on the growth,development,and cognitive function of offspring rats,and to evaluate the effects of esaxerenone(ESAX)intervention.METHODS:Thirty female non-pregnant Wistar rats were randomly assigned to three groups:sham operation+pregnancy(control group),UUO+pregnancy(model group),and UUO+pregnancy+esaxerenone(treatment group),with 10 rats in each group.CKD was induced in the UUO+pregnancy and UUO+pregnancy+esaxerenone groups by performing uni-lateral ureteral obstruction(UUO),while the sham operation+pregnancy group underwent a non-ligated and non-clipped ureter procedure.Rats in the treatment group received esaxerenone at a dosage of 1 mg·kg-1·d-1.Vaginal smears were per-formed weekly from the 8th week post-UUO to monitor the estrous cycle.Female and male rats in pre-estrus or estrus were paired in a 2∶1 ratio,and the day with the first appearance of sperm in vaginal smears was recorded as the first day of preg-nancy.Offspring were delivered 21 to 22 days post-gestation,and 10 offspring from each group were selected for further experimentation:sham-offspring(sham-offspr)group,UUO-offspro group,and esaxerenone treatment offspring(ESAX-offspr)group.At 21 days of age,offspring weight and tail length were measured.Behavioral tests,including the open field test,Y maze test,and Morris water maze test,assessed learning and memory abilities.Serum levels of aldosterone,5-hydroxytryptamine(5-HT),and brain-derived neurotrophic factor(BDNF)were measured using ELISA.Serum creati-nine(SCr)and blood urea nitrogen(BUN)levels were assessed using conventional biochemical methods.Renal pathology was examined using Hematoxylin-Eosin(HE)staining.RESULTS:Offspring in the UUO-offspr group had reduced body weight and tail length compared to the sham-offspr group(P<0.05).Behavioral tests indicated that exploration and memo-ry abilities were significantly impaired in the UUO-offspr group compared to the sham-offspr group(P<0.05),while the ESAX-offspr group showed improved behavioral development compared to the UUO-offspr group(P<0.05).ELISA results revealed decreased levels of serum 5-HT,BDNF,and aldosterone in the UUO-offspr group compared to the sham-offspr group(P<0.01),with increased levels in the ESAX-offspr group(P<0.05).Renal function tests showed elevated SCr and BUN levels in the UUO-offspr group compared to the sham-offspr group(P<0.01),while levels in the ESAX-offspr group were reduced(P<0.01).HE staining demonstrated mild tubular dilation and inflammatory cell infiltration in the UUO-offspr group,whereas the ESAX-offspr group had well-arranged tubules with reduced inflammation.CONCLU-SION:Chronic kidney disease adversely affects the growth,development,and cognitive function of offspring rats by 21 days of age.Esaxerenone intervention can mitigate these detrimental effects on growth,development,and cognitive abili-ties in offspring rats.
8.Impact of social support on posttraumatic growth in thyroid cancer patients: a chain mediating effect of positive psychological capital and general self-efficacy
Qiaomin WANG ; Binfang LING ; Dong JI ; Jinjing WANG ; Xiaoxia NIU ; Yan YANG ; Tingting ZHANG ; Yi FANG
Chinese Journal of Modern Nursing 2024;30(33):4526-4534
Objective:To construct a chain mediating model based on two mediating variables of positive psychological capital and general self-efficacy, so as to explore the impact mechanism of social support on posttraumatic growth in thyroid cancer patients.Methods:From March to December 2023, convenience sampling was used to select 270 postoperative patients with thyroid cancer from the Chinese People's Liberation Army General Hospital as participants. The patients were surveyed using the General Information Questionnaire, Post Traumatic Growth Inventory, Social Support Rating Scale, Positive Psychological Questionnaire, and General Self-efficacy Scale. Spearman correlation was used to analyze the correlation between social support, positive psychological capital, general self-efficacy, and posttraumatic growth in thyroid cancer patients. SPSS PROCESS program was used to test for the chain mediating effect.Results:A total of 270 questionnaires were distributed, and 257 questionnaires were collected. After excluding questionnaires with missing items exceeding 10% and regular responses, 246 valid questionnaires were collected, with a valid response rate of 91.11% (246/270). Spearman correlation showed that there was positive correlations between social support, positive psychological capital, general self-efficacy, and posttraumatic growth in patients ( P<0.01). Mediating effect analysis showed that social support directly and positively predicted posttraumatic growth in thyroid cancer [ β=0.403, 95% CI (0.258, 0.547) ], and also affected patients' posttraumatic growth through three indirect pathways, namely social support → positive psychological capital → posttraumatic growth, with an effect value of 0.083 [95% CI (0.002, 0.173) ], accounting for 13.63% of the total effect, and social support → general self-efficacy → posttraumatic growth, with an effect value of 0.099 [95% CI (0.040, 0.166) ], accounting for 16.26% of the total effect, and social support → positive psychological capital → general self-efficacy → posttraumatic growth, with an effect value of 0.025 [95% CI (0.005, 0.051) ], accounting for 4.11% of the total effect. The total indirect effect accounted for 33.83% of the total effect. Conclusions:Social support can not only directly affect the post-traumatic growth of thyroid cancer patients, but also indirectly affect post-traumatic growth through the mediating effect of positive psychological capital and general self-efficacy.
9.Value of intraperitoneal soluble interleukin-6 receptor in predicting ultrafiltration insufficiency in peritoneal dialysis patients
Han LI ; Wei NIU ; Xinyu SU ; Yiwei SHEN ; Hao YAN ; Zhenyuan LI ; Zanzhe YU ; Jiangzi YUAN ; Na JIANG ; Jiaying HUANG ; Zhaohui NI ; Leyi GU ; Wei FANG
Chinese Journal of Nephrology 2024;40(6):442-450
Objective:To investigate the value of soluble interleukin-6 (IL-6) receptor (sIL-6R) level in predicting ultrafiltration insufficiency in peritoneal dialysis (PD) patients.Methods:It was a prospective cohort study. The patients who received continuous ambulatory PD and regular follow-up between November 2016 and July 2018 in the PD Center of Renji Hospital, School of Medicine, Shanghai Jiao Tong University were enrolled. Enzyme-linked immunosorbent assay was used to determine dialysate sIL-6R and its appearance rate (AR) was calculated. Patients were divided into high sIL-6R AR group and low sIL-6R AR group according to median value of sIL-6R AR and prospectively followed up until death, PD cessation, or the end of the study (December 31, 2022). Multiple linear regression was used to analyze the related factors of sIL-6R AR. Kaplan-Meier method and log-rank test were used to compare the survival rate difference of ultrafiltration insufficiency between high sIL-6R AR group and low sIL-6R AR group. Multivariate Cox regression and multivariate competing risk models were used to assess the risk factors associated with occurrence of ultrafiltration insufficiency.Results:A total of 198 PD patients were enrolled, including 115 (58.1%) males, with age of (54.9±13.7) years old and PD duration of 22.5 (6.6, 65.0) months. The sIL-6R AR of the cohort was 2 094.7 (1 672.4, 2 920.9) pg/min. Compared with low sIL-6R AR(<2 094.7 pg/min)group, high sIL-6R AR(>2 094.7 pg/min)group had older age ( t=-3.269, P=0.001), higher body mass index ( t=-3.248, P=0.001), proportion of combined diabetes mellitus ( χ2=8.890, P=0.003), 24 h glucose exposure ( Z=-2.257, P=0.024), 24 h ultrafiltration capacity ( Z=-2.515, P=0.012), 4 h dialysate creatinine to serum creatinine ratio ( t=-2.609, P=0.010), mass transfer area coefficient of creatinine ( Z=-2.308, P=0.021), IL-6 AR ( Z=-3.533, P<0.001) and solute glycoprotein 130 AR ( Z=-8.670, P<0.001), and lower serum albumin ( t=2.595, P=0.010) and residual renal function ( t=2.133, P=0.033). Multiple linear regression analysis showed that body mass index ( β=0.194, P=0.005), serum albumin ( β=-0.215, P=0.002) and dialysate lg[IL-6 AR] ( β=0.197, P=0.011) were independently correlated with sIL-6R AR. By the end of the study, 57 (28.8%) patients developed ultrafiltration insufficiency. Kaplan-Meier analysis showed that high sIL-6R AR group had a significantly inferior ultrafiltration insufficiency-free survival rate than that in low sIL-6R AR group (log-rank χ 2=5.375, P=0.020). Multivariate Cox regression analysis and multivariate competing risk models showed that high dialysate sIL-6R AR (>2 094.7 pg/min) was an independent influencing factor of ultrafiltration insufficiency ( HR=2.286 , 95% CI 1.254-4.165 , P=0.007 ; SHR=2.074, 95% CI 1.124-3.828, P=0.020) in PD patients. Conclusions:Dialysate sIL-6R level was associated with body mass index, serum albumin and dialysate IL-6 level. Dialysate sIL-6R may be a predictive factor of ultrafiltration insufficiency in PD patients.
10.Clinical characteristics and family genetic mutation analysis of adult onset Gaucher disease: report of 1 case
Jie SHI ; Ning XU ; Ye TIAN ; Yan NIU ; Sixun JIA ; Chenmeng YANG ; Meiyun FANG
Journal of Leukemia & Lymphoma 2024;33(8):472-475
Objective:To investigate the clinical features and family gene mutation results of the adult onset Gaucher disease patient.Methods:The diagnosis and treatment of a patient with Gaucher disease who was admitted to the Affiliated Zhongshan Hospital of Dalian University in March 2020 were retrospectively analyzed, and the literature was reviewed.Results:The patient (the proband) was a 34-year-old female, the anemia, thrombocytopenia and splenomegalia were found in 2005. After regular physical examination, the decrease of leukocyte, red blood cell and platelet was gradually aggravated, and the progressive enlargement of the spleen was aggravated. She visited the clinic on March 19, 2020 due to worsening of fatigue. The physical examination revealed hepatomegaly, splenomegaly; blood routine examination showed pancytopenia, and bone marrow morphology showed a large number of Gaucher cells. Peripheral blood β- glucocerebrosidase (GBA) of the proband was 1.8 nmol·mg -1·h -1 (reference value 10-25 nmol·mg -1·h -1), and the GBA of her father, mother, brother, and daughter was normal. The second-generation sequencing results showed that the proband had a mutation in the BCL2 gene at locus c.127G>A p.A43T, with a mutation frequency of 49.53%. GBA gene testing showed that the proband had a heterozygous mutation at c.1448T>C (a pathogenic mutation), heterozygous mutations at c.1026A>G and c.1038C>T (homozygous mutations), and a heterozygous mutation at c.1075G>T (mutation of unknown clinical significance). The proband's father had c.1448T>C heterozygous mutation, and he was a carrier; the proband's mother had c.1075G>T heterozygous mutation; the proband's brother had no gene mutation; the proband's daughter had c.1448T>C heterozygous mutation, and she was a carrier. The diagnosis was type Ⅰ Gaucher disease (non-neuropathic). The patient was proposed to participate in the clinical trial of imiglucerase, and during the follow-up, the blood routine was relatively stable, and the spleen remained progressively enlarged. Conclusions:Gaucher disease is rare, which is easy to be misdiagnosed and underdiagnosed. It is necessary to be alert to the possibility of Gaucher disease when there are patients with unexplained hemocytopenia, liver and spleen enlargement and multiple organs involvement, and enzyme and genetic tests should be performed as soon as possible.

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